Special cases in Cornelia de Lange syndrome: The Spanish experience
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- 作者：Juan Pié ; Beatriz Puisac ; Maria Herná ; ndez-Marcos ; Maria Esperanza Teresa-Rodrigo ; Maria Gil-Rodrí ; guez ; Carolina Baquero-Montoya ; Maria Ramos-Cá ; ceres ; Maria Bernal ; Ariadna Ayerza-Casas ; Iné ; s Bueno ; Paulino Gó ; mez-Puertas and Feliciano J. Ramos
- 刊名：American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- 出版年：2016
- 出版时间：June 2016
- 年：2016
- 卷：172
- 期：2
- 页码：198-205
- 全文大小：384K
- ISSN：1552-4876
文摘
Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies. In 2005, the Spanish CdLS Reference Center was started and now we have more than 270 cases in our database. In this special issue, we describe some of the unique or atypical patients studied by our group, whose clinical features have contributed to the expansion of the CdLS classical phenotype, helping clinicians to diagnose it. We include the case of a male with unilateral tibial hypoplasia and peroneal agenesis who had a mutation in NIPBL; we also describe one patient with a mutation in NIPBL and somatic mosaicism identified by new generation sequencing techniques; we also include one patient with CdLS and Turner syndrome; and last, an interesting patient with a duplication of the SMC1A gene. Finally, we make a short review of the splicing mutations we have found in NIPBL regarding the new knowledge on the physiological variants of the gene.